Cited by 22DNA Repair MechanismsGenetic and rare skin diseases.Genomics and Rare Diseases

Understanding photodermatoses associated with defective DNA repair

Yew, Yik Weng, Giordano, Cerrene N., Spivak, Graciela, Lim, Henry W.·2016·Journal of the American Academy of Dermatology

Abstract

Photodermatoses associated with defective DNA repair are a group of photosensitive hereditary skin disorders. In this review, we focus on diseases and syndromes with defective nucleotide excision repair that are not accompanied by an increased risk of cutaneous malignancies despite having photosensitivity. Specifically, the gene mutations and transcription defects, epidemiology, and clinical features of Cockayne syndrome, cerebro-oculo-facial-skeletal syndrome, ultraviolet-sensitive syndrome, and trichothiodystrophy will be discussed. These conditions may also have other extracutaneous involvement affecting the neurologic system and growth and development. Rigorous photoprotection remains an important component of the management of these inherited DNA repair-deficiency photodermatoses.

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Crossref · 10.1016/j.jaad.2016.03.044

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  • Conditions with mutations in NER pathways include xeroderma pigmentosum (XP), Cockayne syndrome (CS), trichothiodystrophy (TTD), UV-sensitive syndrome (UV-SS), and cerebro-oculo-facioskeletal syndrome (COFS).

    “These include the conditions with mutations in NER pathways (presented in Table 3) such as xeroderma pigmentosum (XP) [149,150], Cockayne syndrome (CS) [151,152], trichothiodystrophy (TTD) [153,154,155,156], UV-sensitive syndrome (UV-SS), and cerebro-oculo-facioskeletal syndrome (COFS) [157,158,159].”

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Authors
Yew, Y. W., Giordano, C. N., Spivak, G., & Lim, H. W.
Affiliations
  • National Skin Centre (SG)
  • Henry Ford Hospital (US)
  • Stanford University (US)
Corresponding author
Lim, Henry W.
Venue
Journal of the American Academy of Dermatology
Publisher
Elsevier BV
Published
2016-11
Volume
75
Issue
5
Pages
873-882
ISSN
0190-9622 (ISSN-L)
OpenAlex
W2533598019
Cited by
22
References
53
Citations by year
2025: 3 · 2024: 3 · 2023: 1 · 2022: 2 · 2021: 4 · 2020: 2 · 2019: 2 · 2018: 5
FWCI
0.21
Type
journal article
Language
en
Open access
closed
Locations
  • Journal of the American Academy of Dermatology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
photodermatosis, nucleotide excision repair, Cockayne syndrome, trichothiodystrophy, photosensitivity, hereditary skin disease, genetic mutations, photoprotection, neurological involvement, growth and development
MeSH terms
Cockayne Syndrome, Humans, Phenotype, Photosensitivity Disorders, Radiation Tolerance, RNA Polymerase II, Transcription, Genetic, Ultraviolet Rays, Xeroderma Pigmentosum, Mutagenesis, DNA Adducts, Disease Management, Genetic Predisposition to Disease, DNA Repair-Deficiency Disorders, Trichothiodystrophy Syndromes

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